Abstract |
Chediak-Higashi syndrome is a rare autosomal recessive disease characterized by partial oculocutaneous albinism, recurrent pyogenic infections and the presence of giant granules in many cells such as leucocytes (hallmark of the disease). Neurological symptoms are rare. We describe two sisters who presented the same phenotype of slowly progressive motor neuronopathy (with Babinski sign in one patient); biopsy of the sural nerve showed an abnormal endoneurial accumulation of lipofuscin granules. We discuss these two observations and compare them with the few case reports of neuropathy in Chediak-Higashi syndrome.
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Authors | S Mathis, P Cintas, G de Saint-Basile, L Magy, B Funalot, J-M Vallat |
Journal | Journal of the neurological sciences
(J Neurol Sci)
Vol. 344
Issue 1-2
Pg. 203-7
(Sep 15 2014)
ISSN: 1878-5883 [Electronic] Netherlands |
PMID | 25043664
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2014 Elsevier B.V. All rights reserved. |
Topics |
- Adult
- Chediak-Higashi Syndrome
(complications)
- Female
- Humans
- Movement Disorders
(etiology)
- Peroneal Nerve
(pathology, ultrastructure)
- Peroneal Neuropathies
(etiology, pathology)
- Siblings
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